Rabbit GABRA1 Polyclonal Antibody | anti-GABRA1 antibody
GABRA1 antibody - middle region
Western Blot (WB)
(WB Suggested Anti-GABRA1 Antibody Titration: 0.2-1 ug/mlELISA Titer: 1:62500Positive Control: 721_B cell lysate)
Target Description: GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified.This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene.
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Uniprot Description
GABRA1: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4). A subtype of idiopathic generalized epilepsy characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures may develop. Absence seizures may either remit or persist into adulthood. Defects in GABRA1 are the cause of juvenile myoclonic epilepsy type 5 (EJM5). A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily.
Protein type: Membrane protein, integral; Channel, ligand-gated; Transporter, ion channel; Membrane protein, multi-pass; Transporter
Chromosomal Location of Human Ortholog: 5q34
Cellular Component: postsynaptic membrane; integral to plasma membrane; plasma membrane; cell junction
Molecular Function: chloride channel activity; GABA-A receptor activity; GABA receptor activity; drug binding; extracellular ligand-gated ion channel activity
Biological Process: synaptic transmission; transport; synaptic transmission, GABAergic; transmembrane transport; gamma-aminobutyric acid signaling pathway
Disease: Epilepsy, Idiopathic Generalized, Susceptibility To, 13; Epileptic Encephalopathy, Early Infantile, 19
